View all transcript variants in gene DGUOK

MSeqDR-LSDB: Mitochondrial Disease LSDB

The variants shown are described using the transcript reference sequence.

Legend

Please note that a short description of a certain column can be displayed when you move your mouse cursor over the column's header and hold it still. Below, a more detailed description is shown per column.

GVS function: The functional annotation of this position from the Genome Variation Server.
All options:

intergenic

near-gene-5

utr-5

coding

coding-near-splice

coding-synonymous

coding-synonymous-near-splice

codingComplex

codingComplex-near-splice

frameshift

frameshift-near-splice

missense

missense-near-splice

splice-5

intron

splice-3

stop-gained

stop-gained-near-splice

stop-lost

stop-lost-near-splice

utr-3

near-gene-3

Splice distance: The distance to the nearest splice site.

SIFT: SIFT Annotation

Allele: On which allele is the variant located? Does not necessarily imply inheritance! 'Paternal' (confirmed or inferred), 'Maternal' (confirmed or inferred), 'Parent #1' or #2 for compound heterozygosity without having screened the parents, 'Unknown' for heterozygosity without having screened the parents, 'Both' for homozygozity.

Type: Type of variant at DNA level; note that the variant type can also be derived from the variant description (for all levels).
All options:

Published as: Variant as originally reported (e.g. 521delT); listed only when different from "DNA change". Variants seen in animal models, tested in vitro, predicted from RNA analysis, etc. are described between brackets like c.(456C>G).

GERP: The Conservation score as calculated by GERP.

Segregation: Indicates whether the variant segregates with the phenotype (yes), does not segregate with the phenotype (no) or segregation is unknown (?)
All options:

? = Unknown

yes = Segregates with phenotype

no = Does not segregate with phenotype

DB-ID: Database ID of variant, grouping multiple observations of the same variant together, starting with the HGNC gene symbol, followed by an underscore (_) and a six digit number (e.g. DMD_012345). _000000 is used for variants where DNA was not analysed (change predicted from RNA analysis), variants seen in animal models or variants not seen in humans but functionally tested in vitro.

Genetic origin: Origin of variant; unknown, germline (inherited), somatic, de novo, from parental disomy (maternal or paternal) or in vitro (cloned) when tested for functional consequences.
All options:

Unknown

Germline (inherited)

Somatic

De novo

Uniparental disomy

Uniparental disomy, maternal allele

Uniparental disomy, paternal allele

In vitro (cloned)

5 entries on 1 page. Showing entries 1 - 5.

Legend

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